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Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review.
BMC Pregnancy Childbirth
December 2022
Department of Infectious Diseases, Shengjing Hospital of China Medical University, Sanhao Street No.36, Heping District, Shenyang, 110004, China.
Background: Citrullinemia type I (CTLN1) is a rare urea cycle disorder (UCD) with few adult cases described so far. Diagnosis of late-onset CTLN1 is difficult, and delayed treatment may increase the risk of severe hyperammonemia. Pregnancy is an important risk factor for women with CTLN1.
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